Incidental Mutation 'R6874:Dnai1'
ID 536295
Institutional Source Beutler Lab
Gene Symbol Dnai1
Ensembl Gene ENSMUSG00000061322
Gene Name dynein axonemal intermediate chain 1
Synonyms b2b1526Clo, Dnaic1, 1110066F04Rik
MMRRC Submission 045029-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R6874 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 41569775-41638158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41632412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 582 (L582Q)
Ref Sequence ENSEMBL: ENSMUSP00000100028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102963] [ENSMUST00000119127]
AlphaFold Q8C0M8
Predicted Effect probably damaging
Transcript: ENSMUST00000102963
AA Change: L582Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100028
Gene: ENSMUSG00000061322
AA Change: L582Q

DomainStartEndE-ValueType
low complexity region 134 158 N/A INTRINSIC
low complexity region 238 261 N/A INTRINSIC
Blast:WD40 319 370 1e-17 BLAST
WD40 374 413 1.5e-3 SMART
WD40 419 465 4.4e-2 SMART
Blast:WD40 493 526 5e-13 BLAST
WD40 530 570 9.3e-9 SMART
WD40 575 612 6e-3 SMART
WD40 623 659 1.4e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119127
SMART Domains Protein: ENSMUSP00000113929
Gene: ENSMUSG00000061322

DomainStartEndE-ValueType
Blast:WD40 16 53 2e-19 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mutant mice exhibit situs inversus, heterotaxia and ciliary dyskinesia including cardiovascular defects and decreased ciliary activity in the trachea, reduced to absent mucociliary clearance, and chronic rhinosinusitis. Hydrocephaly is also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,851,428 (GRCm39) D802G possibly damaging Het
Acsl5 A G 19: 55,280,295 (GRCm39) T523A probably damaging Het
Adamts7 A T 9: 90,070,784 (GRCm39) D635V probably damaging Het
Akr1c12 C A 13: 4,322,959 (GRCm39) G217C probably benign Het
Astn1 C A 1: 158,491,644 (GRCm39) S1007* probably null Het
Cntln T C 4: 84,985,996 (GRCm39) L988P probably damaging Het
Dcps A T 9: 35,087,263 (GRCm39) M1K probably null Het
Dst A T 1: 34,328,732 (GRCm39) Q7118L probably benign Het
Ehd2 T A 7: 15,684,363 (GRCm39) T479S probably benign Het
Fbxl7 T C 15: 26,553,028 (GRCm39) I80V probably benign Het
Fry T C 5: 150,360,768 (GRCm39) V125A probably benign Het
Gm12695 A T 4: 96,673,306 (GRCm39) I31K probably benign Het
Gm5591 T C 7: 38,219,715 (GRCm39) E386G probably damaging Het
Helz G T 11: 107,554,460 (GRCm39) R1219S probably damaging Het
Hes3 G T 4: 152,371,695 (GRCm39) P85T possibly damaging Het
Igkv3-2 A T 6: 70,675,822 (GRCm39) R44* probably null Het
Igsf9 A G 1: 172,322,096 (GRCm39) T496A probably benign Het
Irf2bp1 G T 7: 18,739,142 (GRCm39) A261S possibly damaging Het
Jph2 G A 2: 163,181,407 (GRCm39) P586S probably benign Het
Klhl11 T C 11: 100,363,031 (GRCm39) H175R probably benign Het
Ksr2 G T 5: 117,894,401 (GRCm39) E847* probably null Het
Lats1 T A 10: 7,586,615 (GRCm39) Y926N probably damaging Het
Lmbr1 A T 5: 29,497,904 (GRCm39) L33H probably damaging Het
Lrp10 T C 14: 54,705,670 (GRCm39) S287P possibly damaging Het
Map3k6 G A 4: 132,977,967 (GRCm39) E976K probably benign Het
Mfsd6 T A 1: 52,699,868 (GRCm39) D760V probably benign Het
Muc16 G T 9: 18,570,065 (GRCm39) S818* probably null Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nagpa T C 16: 5,013,921 (GRCm39) T306A probably benign Het
Nisch G T 14: 30,898,641 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,298,964 (GRCm39) V1028A probably damaging Het
Nucb1 T C 7: 45,152,618 (GRCm39) N75S probably benign Het
Or11a4 T C 17: 37,536,238 (GRCm39) V74A probably benign Het
Or1e1d-ps1 T G 11: 73,819,068 (GRCm39) M6R probably null Het
Or51a43 T A 7: 103,717,396 (GRCm39) I281F possibly damaging Het
Or5h23 T A 16: 58,906,312 (GRCm39) Y178F probably benign Het
Or7g19 T A 9: 18,856,777 (GRCm39) Y278N possibly damaging Het
Or8b57 A G 9: 40,004,022 (GRCm39) V80A probably benign Het
Or8k24 C T 2: 86,215,872 (GRCm39) V297I possibly damaging Het
Pik3c2a A G 7: 115,993,540 (GRCm39) L409S probably damaging Het
Pkhd1l1 T A 15: 44,452,923 (GRCm39) D3949E probably benign Het
Prune2 C A 19: 17,100,592 (GRCm39) P2032Q probably damaging Het
Ptms T C 6: 124,891,194 (GRCm39) probably benign Het
Ptp4a3 A G 15: 73,595,259 (GRCm39) probably benign Het
Ptprq T C 10: 107,554,460 (GRCm39) I88M possibly damaging Het
Radil T A 5: 142,492,557 (GRCm39) D357V probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Supt20 A G 3: 54,635,175 (GRCm39) probably null Het
Thoc5 T C 11: 4,851,261 (GRCm39) I69T probably damaging Het
Trib2 G C 12: 15,865,338 (GRCm39) S79W probably damaging Het
Trpc6 A G 9: 8,680,439 (GRCm39) D889G probably damaging Het
Usf3 T C 16: 44,040,103 (GRCm39) S1528P probably benign Het
Vax1 A T 19: 59,156,955 (GRCm39) V126E unknown Het
Vgf A G 5: 137,060,386 (GRCm39) probably benign Het
Vmn2r1 T A 3: 64,012,376 (GRCm39) C746S probably damaging Het
Vmn2r77 A G 7: 86,451,286 (GRCm39) T391A probably benign Het
Zfp738 C A 13: 67,818,382 (GRCm39) E536D possibly damaging Het
Other mutations in Dnai1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02678:Dnai1 APN 4 41,602,917 (GRCm39) missense probably benign 0.03
IGL02825:Dnai1 APN 4 41,625,101 (GRCm39) splice site probably benign
IGL03072:Dnai1 APN 4 41,602,979 (GRCm39) missense probably benign 0.00
H8562:Dnai1 UTSW 4 41,629,833 (GRCm39) missense possibly damaging 0.81
R0114:Dnai1 UTSW 4 41,605,686 (GRCm39) splice site probably benign
R0138:Dnai1 UTSW 4 41,629,814 (GRCm39) missense possibly damaging 0.49
R0153:Dnai1 UTSW 4 41,635,162 (GRCm39) unclassified probably benign
R0465:Dnai1 UTSW 4 41,629,988 (GRCm39) splice site probably null
R0550:Dnai1 UTSW 4 41,596,274 (GRCm39) nonsense probably null
R0555:Dnai1 UTSW 4 41,625,335 (GRCm39) missense possibly damaging 0.64
R0890:Dnai1 UTSW 4 41,604,253 (GRCm39) missense possibly damaging 0.69
R0928:Dnai1 UTSW 4 41,602,566 (GRCm39) missense possibly damaging 0.57
R0944:Dnai1 UTSW 4 41,629,997 (GRCm39) missense probably benign
R1714:Dnai1 UTSW 4 41,632,164 (GRCm39) missense probably benign 0.12
R1902:Dnai1 UTSW 4 41,625,319 (GRCm39) nonsense probably null
R1919:Dnai1 UTSW 4 41,570,020 (GRCm39) critical splice donor site probably null
R1983:Dnai1 UTSW 4 41,603,232 (GRCm39) missense probably benign
R2036:Dnai1 UTSW 4 41,632,225 (GRCm39) missense probably damaging 1.00
R2306:Dnai1 UTSW 4 41,625,239 (GRCm39) missense probably benign
R2925:Dnai1 UTSW 4 41,597,919 (GRCm39) missense probably damaging 1.00
R3404:Dnai1 UTSW 4 41,603,246 (GRCm39) missense probably benign 0.00
R3720:Dnai1 UTSW 4 41,602,615 (GRCm39) missense probably damaging 1.00
R3721:Dnai1 UTSW 4 41,602,615 (GRCm39) missense probably damaging 1.00
R3722:Dnai1 UTSW 4 41,602,615 (GRCm39) missense probably damaging 1.00
R3931:Dnai1 UTSW 4 41,604,229 (GRCm39) missense probably damaging 1.00
R4330:Dnai1 UTSW 4 41,637,966 (GRCm39) missense probably damaging 1.00
R4755:Dnai1 UTSW 4 41,610,269 (GRCm39) missense probably damaging 0.99
R4905:Dnai1 UTSW 4 41,614,269 (GRCm39) missense probably benign 0.05
R4997:Dnai1 UTSW 4 41,597,919 (GRCm39) missense possibly damaging 0.80
R5088:Dnai1 UTSW 4 41,632,251 (GRCm39) missense probably benign 0.02
R5088:Dnai1 UTSW 4 41,597,630 (GRCm39) missense probably benign 0.00
R5970:Dnai1 UTSW 4 41,625,281 (GRCm39) missense probably benign 0.14
R5987:Dnai1 UTSW 4 41,632,391 (GRCm39) missense probably benign 0.03
R6247:Dnai1 UTSW 4 41,605,775 (GRCm39) missense probably benign
R6727:Dnai1 UTSW 4 41,625,308 (GRCm39) missense probably benign
R6914:Dnai1 UTSW 4 41,625,176 (GRCm39) missense probably benign 0.01
R7508:Dnai1 UTSW 4 41,614,323 (GRCm39) missense probably benign 0.01
R7831:Dnai1 UTSW 4 41,614,695 (GRCm39) critical splice donor site probably null
R7832:Dnai1 UTSW 4 41,605,823 (GRCm39) missense probably benign 0.42
R7985:Dnai1 UTSW 4 41,630,055 (GRCm39) missense probably benign
R8065:Dnai1 UTSW 4 41,614,258 (GRCm39) missense probably damaging 1.00
R8067:Dnai1 UTSW 4 41,614,258 (GRCm39) missense probably damaging 1.00
R8234:Dnai1 UTSW 4 41,625,221 (GRCm39) missense probably benign 0.00
R8906:Dnai1 UTSW 4 41,625,125 (GRCm39) missense probably benign 0.00
R9537:Dnai1 UTSW 4 41,629,790 (GRCm39) critical splice acceptor site probably null
R9723:Dnai1 UTSW 4 41,603,302 (GRCm39) missense possibly damaging 0.95
X0065:Dnai1 UTSW 4 41,629,868 (GRCm39) missense possibly damaging 0.89
Z1176:Dnai1 UTSW 4 41,614,323 (GRCm39) missense probably benign 0.32
Z1177:Dnai1 UTSW 4 41,569,809 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGACGCTGTGCTATGGAACC -3'
(R):5'- TCATCTCCTACTGACCTGGG -3'

Sequencing Primer
(F):5'- GCTGTGCTATGGAACCCATAC -3'
(R):5'- CTACTGACCTGGGGTGGCATG -3'
Posted On 2018-10-18